Cep290^b2b1454Clo
Chemically induced Allele Detail

Summary

• Symbol: Cep290^b2b1454Clo
• Name: centrosomal protein 290; Bench to Bassinet Program (B2B/CVDC), mutation 1454 Cecilia Lo
• MGI ID: MGI:5437082
• Synonyms: Cep290^c.T4670A, Checkers
• Gene: Cep290 Location: Chr10:100323410-100409527 bp, + strand Genetic Position: Chr10, 51.48 cM
• Alliance: Cep290^b2b1454Clo page

Mutant 1754-003-NA displays malpositioning of the IVC, aortic arch hypoplasia and malpositiong of the OFT confirmed to be DORV by EFIC imaging

Show the 15 phenotype image(s) involving this allele.

Mutation origin

• Strain of Origin: C57BL/6J
• Project Collection: B2B/CvDC

Mutation description

• Allele Type: Chemically induced (ENU)
• Mutation: Single point mutation
• Mutation details: This ENU-induced mutation was isolated in a screen at the University of Pittsburgh. The molecular lesion is a T to A substitution at coding nucleotide 4670 in exon 34 of the cDNA (c.4670T>A, NM_146009). This changes the leucine residue to a translation stop at position 1557 of the encoded protein (p.L1557*). (J:175213) Additional incidental mutations were detected in sequencing for the causative mutation, Cep290^b2b1454Clo, and may be present in stocks carrying this mutation.

Disease models

Expression

In Structures Affected by this Mutation:

3 anatomical structure(s)

Find Mice (IMSR)

• Mouse strains and cell lines available from the International Mouse Strain Resource (IMSR)
• Carrying this Mutation: Mouse Strains: 1 strain available Cell Lines: 0 lines available
• Carrying any Cep290 Mutation: 124 strains or lines available

Notes

Summative Diagnosis:
Cardiac phenotype: Congenital heart disease associated with heterotaxy such as doublet outlet right ventricle, atrioventricular septal defect, duplicated inferior vena cava (IVC), and hypoplastic spleen/polysplenia
Noncardiac phenotype: Cystic kidney tubular and glomerular cysts. Open eyes, micrognathia
Fyler Codes
The Fyler code developed by The Boston Children's Heart Foundation in Boston Children's Hospital provides a hierarchical clinical diagnosis of congenital cardiovascular defects and other disorders. These codes are used to delineate pathology in the mutant mouse models that parallel human disease and can be cross referenced to the International Pediatric and Congenital Cardiac Code (IPCCC) (http://www.ipccc.net/).

Fyler Code ID	Code Description
0190	Heterotaxy Syndrome
0192	Polysplenia syndrome (left isomerism)
0600	Double outlet right ventricle
1100	Atrioventricular canal (endocardial cushion defect)
1340	Ventricular septal defect, ECD type
2810	Inferior vena cava anomaly
3804	Congenital heart disease
3983	{A,D,D}
4163	Micrognathia
4508	Polycystic kidney disease

References

• Original: J:175213 Lo C, Information submitted by the NHLBI Cardiovascular Development Consortium (CvDC), Bench to Bassinet Program (B2B/CvDC). MGI Direct Data Submission (B2B/CvDC). 2011-09-12
• All: 3 reference(s)